SMAD2 |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SMAD2 (HGNC:6768) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- SMAD family member 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- MADH2
- Alias symbols
- MADR2, JV18-1
- %HI
- 0.33(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.26(Read more about gnomAD LOEUF score)
- Cytoband
- 18q21.1
- Genomic Coordinates
-
GRCh37/hg19: chr18:45335328-45457243 NCBI Ensembl UCSC GRCh38/hg38: chr18:47808957-47930872 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005901.6 ENST00000262160.11 (Read more about MANE Select)
- Function
- Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD2/SMAD4 complex, activates transcription. Promotes TGFB1-mediated transcription of odontoblastic differentiation genes in dental papilla cells (By similarity). Positively regulates PDPK1 ... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9749
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
06/29/2018
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Zaidi et al [PMID: 23665959, 2013] performed a case-control study of individuals with congenital heart disease by trio exome sequencing and identified two affected subjects with de novo pathogenic variants in SMAD2. One individual had a splice donor site variant, p.IVS6+1 G>A, and the second individual had a missense variant, p.Trp244Cys. There is no discussion about the possible functional consequences of these variants, and it is not clear whether they result in functional haploinsufficiency.
At this time, there is no literature regarding focal deletion or loss-of-function variants resulting in haploinsufficiency of SMAD2. Therefore, the current dosage score given is 0.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At this time, there is no literature regarding focal gain of SMAD2. Therefore, the current dosage score given is 0.
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)